Canonical Allele Identifier: CA349740655

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423369C>A (hg19) ; chr2:g.181558642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558642C>A , CM000664.2:g.181558642C>A	GRCh38
NC_000002.11:g.182423369C>A , CM000664.1:g.182423369C>A	GRCh37
NC_000002.10:g.182131614C>A	NCBI36
NG_021178.1:g.103466G>T
NG_021178.2:g.103466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-13G>T	ENSP00000508396.1:n.-13G>T
ENST00000410087.8:c.744G>T MANE Select	ENSP00000386725.3:p.Gln248His
ENST00000339098.9:c.822G>T	ENSP00000341159.5:p.Gln274His
ENST00000374967.6:c.680G>T	ENSP00000364106.2:n.680G>T
ENST00000374969.6:c.482-8934G>T	ENSP00000364108.2:n.482-8934G>T
ENST00000374970.6:c.614-8934G>T	ENSP00000364109.2:n.614-8934G>T
ENST00000409440.7:c.690G>T	ENSP00000387080.3:p.Gln230His
ENST00000410087.7:c.744G>T	ENSP00000386725.3:p.Gln248His
ENST00000421817.5:c.*26G>T	ENSP00000411466.1:n.*26G>T
ENST00000452174.5:c.548G>T	ENSP00000409198.1:n.548G>T
ENST00000479558.5:n.742G>T
ENST00000494398.5:n.744G>T
NM_001030311.2:c.822G>T	NP_001025482.1:p.Gln274His
NM_001030312.2:c.482-8934G>T	NP_001025483.1:n.482-8934G>T
NM_001030313.2:c.614-8934G>T	NP_001025484.1:n.614-8934G>T
NM_001160277.1:c.690G>T	NP_001153749.1:p.Gln230His
NM_201548.4:c.744G>T	NP_963842.1:p.Gln248His
NR_027689.1:n.649G>T
NR_027690.1:n.781G>T
NM_201548.5:c.744G>T MANE Select	NP_963842.1:p.Gln248His
NM_001030311.3:c.822G>T	NP_001025482.1:p.Gln274His
NM_001030312.3:c.482-8934G>T	NP_001025483.1:n.482-8934G>T
NM_001030313.3:c.614-8934G>T	NP_001025484.1:n.614-8934G>T
NM_001160277.2:c.690G>T	NP_001153749.1:p.Gln230His
NR_027689.2:n.647G>T
NR_027690.2:n.779G>T